Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. 20117752 2010
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. 20600615 2010
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). 20729507 2010
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081 2009
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. 19464195 2009
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. 19339291 2009
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. 17927801 2008
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. 17928445 2007
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. 17507202 2007
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. 15715999 2005
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. 15525788 2004
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). 12576172 2003
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 12919402 2003
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. 11756608 2001
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. 11524484 2001
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 11254445 2001
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000